Gene: ZMIZ1

Alternate names for this Gene: MIZ|NEDDFSA|RAI17|TRAFIP10|ZIMP10

Gene Summary: This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.3

Description of this Gene: zinc finger MIZ-type containing 1

Type of Gene: protein-coding

rs1250563 in ZMIZ1 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs1250563 in ZMIZ1 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs1250563 in ZMIZ1 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs1554817910 in ZMIZ1 gene and Absent speech PMID 30639322 2019 ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

rs1250567 in ZMIZ1 gene and Adenocarcinoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1250567 in ZMIZ1 gene and Adenoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1250550 in ZMIZ1 gene and Ankylosing spondylitis PMID 23749187 2013 Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.

PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1250552 in ZMIZ1 gene and Asthma PMID 21150878 2011 Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.

rs1250552 in ZMIZ1 gene and Autoimmune Diseases PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs1250563 in ZMIZ1 gene and Autoimmune thyroiditis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs1658319 in ZMIZ1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs1268974 in ZMIZ1 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

rs1250567 in ZMIZ1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1250567 in ZMIZ1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1250567 in ZMIZ1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1250567 in ZMIZ1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1250552 in ZMIZ1 gene and Celiac Disease PMID 22057235 2011 Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

PMID 20190752 2010 Multiple common variants for celiac disease influencing immune gene expression.

PMID 25920553 2016 Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.

PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs1250573 in ZMIZ1 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1250567 in ZMIZ1 gene and Colorectal Carcinoma PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1250567 in ZMIZ1 gene and Colorectal Neoplasms PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1250563 in ZMIZ1 gene and Common Variable Immunodeficiency PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs1250544 in ZMIZ1 gene and Crohn Disease PMID 22482804 2012 Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

PMID 25489960 2015 We confirmed 6 previously reported loci in Caucasian: GPR35 at 2q37 (rs3749172; P = 5.30 × 10, odds ratio [OR] = 1.45), ZNF365 at 10q21 (rs224143; P = 2.20 × 10, OR = 1.38), ZMIZ1 at 10q22 (rs1250569; P = 3.05 × 10, OR = 1.30), NKX2-3 at 10q24 (rs4409764; P = 7.93 × 10, OR = 1.32), PTPN2 at 18p11 (rs514000; P = 9.00 × 10, OR = 1.33), and USP25 at 21q11 (rs2823256; P = 2.49 × 10, OR = 1.35), bringing the number of known CD loci (including 3 in the HLA) in Koreans to 15.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1250563 in ZMIZ1 gene and Diabetes Mellitus, Insulin-Dependent PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs12571751 in ZMIZ1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

PMID 24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31118516 2019 Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

PMID 26818947 2016 Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.

PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs1554817910 in ZMIZ1 gene and Feeding difficulties PMID 30639322 2019 ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

rs1554817910 in ZMIZ1 gene and Global developmental delay PMID 30639322 2019 ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

rs2802372 in ZMIZ1 gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs703978 in ZMIZ1 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs780151 in ZMIZ1 gene and Height PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs1250552 in ZMIZ1 gene and Immune System Diseases PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

rs1250546 in ZMIZ1 gene and Inflammatory Bowel Diseases PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

PMID 19915574 2009 We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)).

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs10128264 in ZMIZ1 gene and Juvenile arthritis PMID 24709693 2014 Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.

PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs1250563 in ZMIZ1 gene and Lupus Erythematosus, Systemic PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs704010 in ZMIZ1 gene and Malignant neoplasm of breast PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs1250567 in ZMIZ1 gene and Malignant neoplasm of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1250567 in ZMIZ1 gene and Malignant tumor of colon PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1250550 in ZMIZ1 gene and Marginal Zone B-Cell Lymphoma PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

rs1749824 in ZMIZ1 gene and Meningococcal Infections PMID 20694013 2010 Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.

rs1250542 in ZMIZ1 gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

PMID 21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs780159 in ZMIZ1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs74142329 in ZMIZ1 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1554817910 in ZMIZ1 gene and Poor head control PMID 30639322 2019 ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

rs11593576 in ZMIZ1 gene and Psoriasis PMID 25854761 2015 Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.

PMID 22482804 2012 Three of the shared loci are also genome-wide significantly associated with PS alone (10q22 at ZMIZ1, p(rs1250544) = 3.53 × 10(-8), 11q13 near PRDX5, p(rs694739) = 3.71 × 10(-09), 22q11 at YDJC, p(rs181359) = 8.02 × 10(-10)).

PMID 23143594 2012 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1250544 in ZMIZ1 gene and Psoriasis vulgaris PMID 26626624 2015 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.

rs1250563 in ZMIZ1 gene and Ulcerative Colitis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs703978 in ZMIZ1 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs7914926 in ZMIZ1 gene and Vital capacity PMID 28166213 2017 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11593576 in ZMIZ1 gene and Vitiligo PMID 20526339 2010 Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.

rs703984 in ZMIZ1 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.